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17β-羟类固醇脱氢酶1型基因937A>G多态性与波兰白种人子宫内膜异位症女性不孕的关系

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

作者信息

Osiński Maciej, Mostowska Adrianna, Wirstlein Przemyslaw, Skrzypczak Jana, Jagodziński Paweł Piotr, Szczepańska Malgorzata

机构信息

Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction, Poznan University of Medical Sciences, 33 Polna St, 60-535, Poznań, Poland.

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.

出版信息

J Assist Reprod Genet. 2017 Jun;34(6):789-794. doi: 10.1007/s10815-017-0911-9. Epub 2017 Apr 12.

Abstract

PURPOSE

Endometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17β-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17β estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population.

METHODS

The genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis.

RESULTS

Statistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The p and p values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178-3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178-2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV.

CONCLUSION

Our genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.

摘要

目的

子宫内膜异位症被认为是一种与雌激素相关的慢性炎症性疾病。17β - 羟类固醇脱氢酶1(HSD17B1)可将雌酮转化为17β - 雌二醇。HSD17B1 937 A>G(rs605059)单核苷酸多态性(SNP)在子宫内膜异位症发生发展中的作用仍存在争议。本研究评估了波兰白种人群中HSD17B1 937 A>G(rs605059)SNP与受子宫内膜异位症影响的不孕女性之间的关联。

方法

通过高分辨率熔解曲线分析对病例组(n = 290)和生育期女性组(n = 410)进行基因分型。

结果

统计分析表明,HSD17B1 937 A>G SNP与I期和II期子宫内膜异位症相关。针对HSD17B1 937 A>G多态性计算的p值和p值具有统计学意义,分别等于0.001和0.0009。显性模型存在显著关联:(AG + GG 对比 AA)优势比(OR)= 1.973(95%置信区间[CI] = 1.178 - 3.304),p = 0.009;隐性模型也存在显著关联:(GG对比AG + AA)OR = 1.806(95% CI = 1.178 - 2.770),p = 0.006。然而,我们未发现HSD17B1 937 A>G多态性与所有子宫内膜异位症不孕女性或III期和IV期子宫内膜异位症不孕女性之间存在统计学关联。

结论

我们的基因研究表明,在波兰白种人患者中,HSD17B1 937 G变异是I期和II期子宫内膜异位症女性不孕的一个风险因素。

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本文引用的文献

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Association of WNT4 polymorphisms with endometriosis in infertile patients.WNT4基因多态性与不孕患者子宫内膜异位症的关联
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